Macular Dystrophy/Stargardt Disease
Gene: CDHR1EnsemblGeneIds (GRCh38): ENSG00000148600
EnsemblGeneIds (GRCh37): ENSG00000148600
OMIM: 609502, Gene2Phenotype
CDHR1 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>10 individuals with late-onset macular dystrophy reported, mainly with c.783G>A (synonymous variant leading to in-frame skipping of exon 8) in the homozygous state or compound heterozygous with a second pathogenic variant in CDHR1
Sources: Expert listCreated: 19 May 2023, 5:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic macular dystrophy MONDO:0020242
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Genetic macular dystrophy MONDO:0020242
- OMIM
- 609502
- Clinvar variants
- Variants in CDHR1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cdhr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cdhr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CDHR1 was added gene: CDHR1 was added to Macular Dystrophy/Stargardt Disease. Sources: Expert list Mode of inheritance for gene: CDHR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDHR1 were set to 32681094; 31387115; 35627310 Phenotypes for gene: CDHR1 were set to Genetic macular dystrophy MONDO:0020242 Review for gene: CDHR1 was set to GREEN gene: CDHR1 was marked as current diagnostic